MCID: INT332
MIFTS: 4

Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

MalaCards integrated aliases for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome:

Name: Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome 59

Classifications:



External Ids:

Orphanet 59 ORPHA508498

Summaries for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

MalaCards based summary : Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome An important gene associated with Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome is PUF60 (Poly(U) Binding Splicing Factor 60).

Related Diseases for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Symptoms & Phenotypes for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Drugs & Therapeutics for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Search Clinical Trials , NIH Clinical Center for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome

Genetic Tests for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Anatomical Context for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Publications for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Variations for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Expression for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Search GEO for disease gene expression data for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome.

Pathways for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

GO Terms for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

Sources for Intellectual Disability-Cardiac Anomalies-Short Stature-Joint...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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